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1دورية أكاديمية
المؤلفون: Goodin, D, S, Khankhanian, P, Gourraud, P, A, Vince, N
المساهمون: University of California San Francisco (UC San Francisco), University of California (UC), University of Pennsylvania, Centre de Recherche en Transplantation et Immunologie (U1064 Inserm - CRTI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Université de Nantes (UN), Institut de transplantation urologie-néphrologie (ITUN), Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)
المصدر: ISSN: 1755-8794 ; BMC Medical Genomics ; https://inserm.hal.science/inserm-03313792Test ; BMC Medical Genomics, 2021, 14 (1), pp.183. ⟨10.1186/s12920-021-01018-6⟩.
مصطلحات موضوعية: Genetic, Susceptibility, Multiple sclerosis, Risk, Additive, Multiplicative, Combination, Epidemiology, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34246256; inserm-03313792; https://inserm.hal.science/inserm-03313792Test; https://inserm.hal.science/inserm-03313792/documentTest; https://inserm.hal.science/inserm-03313792/file/s12920-021-01018-6.pdfTest; PUBMED: 34246256; PUBMEDCENTRAL: PMC8272333
الإتاحة: https://doi.org/10.1186/s12920-021-01018-6Test
https://inserm.hal.science/inserm-03313792Test
https://inserm.hal.science/inserm-03313792/documentTest
https://inserm.hal.science/inserm-03313792/file/s12920-021-01018-6.pdfTest -
2دورية أكاديمية
المؤلفون: Goodin, D, S, Khankhanian, P, Gourraud, P, A, Vince, N
المساهمون: University of California San Francisco (UC San Francisco), University of California (UC), University of Pennsylvania, Centre de Recherche en Transplantation et Immunologie (U1064 Inserm - CRTI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Université de Nantes (UN), Institut de transplantation urologie-néphrologie (ITUN), Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)
المصدر: ISSN: 1755-8794 ; BMC Medical Genomics ; https://inserm.hal.science/inserm-03313792Test ; BMC Medical Genomics, 2021, 14 (1), pp.183. ⟨10.1186/s12920-021-01018-6⟩.
مصطلحات موضوعية: Genetic, Susceptibility, Multiple sclerosis, Risk, Additive, Multiplicative, Combination, Epidemiology, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34246256; inserm-03313792; https://inserm.hal.science/inserm-03313792Test; https://inserm.hal.science/inserm-03313792/documentTest; https://inserm.hal.science/inserm-03313792/file/s12920-021-01018-6.pdfTest; PUBMED: 34246256; PUBMEDCENTRAL: PMC8272333
الإتاحة: https://doi.org/10.1186/s12920-021-01018-6Test
https://inserm.hal.science/inserm-03313792Test
https://inserm.hal.science/inserm-03313792/documentTest
https://inserm.hal.science/inserm-03313792/file/s12920-021-01018-6.pdfTest -
3دورية أكاديمية
المؤلفون: Goodin, DS, Khankhanian, P, Gourraud, PA, Vince, N
المصدر: BMC Medical Genomics, vol 14, iss 1
مصطلحات موضوعية: Biological Sciences, Genetics, Autoimmune Disease, Prevention, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Genetic Predisposition to Disease, Genetic, Susceptibility, Multiple sclerosis, Risk, Additive, Multiplicative, Combination, Epidemiology, Medical Biochemistry and Metabolomics, Oncology and Carcinogenesis, Genetics & Heredity
وصف الملف: application/pdf
العلاقة: qt5ct6j367; https://escholarship.org/uc/item/5ct6j367Test
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4دورية أكاديمية
المؤلفون: Goodin, D, Khankhanian, P, Gourraud, P, Vince, N
المساهمون: University of California San Francisco (UCSF), University of California, University of Pennsylvania Philadelphia, Centre de Recherche en Transplantation et Immunologie (U1064 Inserm - CRTI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Université de Nantes (UN), Institut de transplantation urologie-néphrologie (ITUN), Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)
المصدر: ISSN: 1755-8794 ; BMC Medical Genomics ; https://www.hal.inserm.fr/inserm-03313792Test ; BMC Medical Genomics, BioMed Central, 2021, 14 (1), pp.183. ⟨10.1186/s12920-021-01018-6⟩.
مصطلحات موضوعية: Genetic, Susceptibility, Multiple sclerosis, Risk, Additive, Multiplicative, Combination, Epidemiology, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34246256; inserm-03313792; https://www.hal.inserm.fr/inserm-03313792Test; https://www.hal.inserm.fr/inserm-03313792/documentTest; https://www.hal.inserm.fr/inserm-03313792/file/s12920-021-01018-6.pdfTest; PUBMED: 34246256; PUBMEDCENTRAL: PMC8272333
الإتاحة: https://doi.org/10.1186/s12920-021-01018-6Test
https://www.hal.inserm.fr/inserm-03313792Test
https://www.hal.inserm.fr/inserm-03313792/documentTest
https://www.hal.inserm.fr/inserm-03313792/file/s12920-021-01018-6.pdfTest -
5دورية أكاديمية
المؤلفون: Goodin, D. S., Khankhanian, P., Gourraud, P. A., Vince, N.
المصدر: BMC Medical Genomics ; volume 14, issue 1 ; ISSN 1755-8794
مصطلحات موضوعية: Genetics (clinical), Genetics
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6دورية أكاديمية
المؤلفون: Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S. M., Cavalleri G. L., Koeleman B. P. C., Lerche H., Jehi L., Davis L. K., Najm I. M., Palotie A., Daly M. J., Busch R. M., Lal D., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B. M., Berkovic S. F., Goldstein D. B., Lowenstein D. H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bellows S. T., Bennett C. A., Johns E. M. C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Sadoway T. R., Mo K., Krestel H., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Kunz W. S., Zsurka G., Elger C. E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A. F., Steinhoff B. J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Barisic N., Delanty N., Doherty C. P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M. S., Mancardi M. M., Vincenzo Salpietro, Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L. G., King C., Mountier E., Caglayan S. H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B. R., Shain C., Poduri A., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Khankhanian P., Helbig K. L., Ellis C. A., Spalletta G., Piras F., Gili T., Ciullo V.
المساهمون: Leu, C., Stevelink, R., Smith, A. W., Goleva, S. B., Kanai, M., Ferguson, L., Campbell, C., Kamatani, Y., Okada, Y., Sisodiya, S. M., Cavalleri, G. L., Koeleman, B. P. C., Lerche, H., Jehi, L., Davis, L. K., Najm, I. M., Palotie, A., Daly, M. J., Busch, R. M., Lal, D., Feng, Y. -C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Churchhouse, C., Gupta, N., Neale, B. M., Berkovic, S. F., Goldstein, D. B., Lowenstein, D. H., Cossette, P., Cotsapas, C., De Jonghe, P., Dixon-Salazar, T., Guerrini, R., Hakonarson, H., Heinzen, E. L., Helbig, I., Kwan, P., Marson, A. G., Petrovski, S., Kamalakaran, S., Stewart, R., Weckhuysen, S., Depondt, C., Dlugos, D. J., Scheffer, I. E., Striano, P., Freyer, C., Krause, R., May, P., Mckenna, K., Regan, B. M., Bellows, S. T., Bennett, C. A., Johns, E. M. C., Macdonald, A., Shilling, H., Burgess, R., Weckhuysen, D., Bahlo, M., O'Brien, T. J., Todaro, M., Stamberger, H., Andrade, D. M., Sadoway, T. R., Mo, K., Krestel, H., Gallati, S., Papacostas, S. S., Kousiappa, I., Tanteles, G. A., Sterbova, K., Vlckova, M., Sedlackova, L., Lassuthova, P., Klein, K. M., Rosenow, F., Reif, P. S., Knake, S., Kunz, W. S., Zsurka, G., Elger, C. E., Bauer, J., Rademacher, M., Pendziwiat, M., Muhle, H., Rademacher, A., Van Baalen, A., Von Spiczak, S., Stephani, U., Afawi, Z., Korczyn, A. D., Kanaan, M., Canavati, C., Kurlemann, G., Muller-Schluter, K., Kluger, G., Hausler, M.
مصطلحات موضوعية: Common variant risk, Epilepsy, Genetic generalized epilepsy, Genetic, Cohort Studie, Cost of Illne, Databases, Factual, Epilepsies, Partial, Generalized, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Human, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31608925; info:eu-repo/semantics/altIdentifier/wos/WOS:000504323200026; volume:142; firstpage:3473; lastpage:3481; numberofpages:9; journal:BRAIN; http://hdl.handle.net/11567/1028583Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074309721
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7دورية أكاديمية
المؤلفون: Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S. M., Cavalleri G. L., Koeleman B. P. C., Lerche H., Jehi L., Davis L. K., Najm I. M., Palotie A., Daly M. J., Busch R. M., Lal D., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B. M., Berkovic S. F., Goldstein D. B., Lowenstein D. H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bellows S. T., Bennett C. A., Johns E. M. C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Sadoway T. R., Mo K., Krestel H., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Kunz W. S., Zsurka G., Elger C. E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A. F., Steinhoff B. J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Barisic N., Delanty N., Doherty C. P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M. S., Mancardi M. M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L. G., King C., Mountier E., Caglayan S. H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B. R., Shain C., Poduri A., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Khankhanian P., Helbig K. L., Ellis C. A., Spalletta G., Piras F., Gili T., Ciullo V.
المساهمون: Leu C., Stevelink R., Smith A.W., Goleva S.B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S.M., Cavalleri G.L., Koeleman B.P.C., Lerche H., Jehi L., Davis L.K., Najm I.M., Palotie A., Daly M.J., Busch R.M., Lal D., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B.M., Berkovic S.F., Goldstein D.B., Lowenstein D.H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bellows S.T., Bennett C.A., Johns E.M.C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Sadoway T.R., Mo K., Krestel H., Gallati S., Papacostas S.S., Kousiappa I., Tanteles G.A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Kunz W.S., Zsurka G., Elger C.E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M.
مصطلحات موضوعية: Common variant risk, Epilepsy, Genetic generalized epilepsy, Genetic, Cohort Studie, Cost of Illne, Databases, Factual, Epilepsies, Partial, Generalized, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Human, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31608925; info:eu-repo/semantics/altIdentifier/wos/WOS:000504323200026; volume:142; issue:11; firstpage:3473; lastpage:3481; numberofpages:9; journal:BRAIN; http://hdl.handle.net/11585/792965Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074309721; https://academic.oup.com/brain/article/142/11/3473/5585821Test
الإتاحة: https://doi.org/10.1093/brain/awz292Test
http://hdl.handle.net/11585/792965Test
https://academic.oup.com/brain/article/142/11/3473/5585821Test -
8دورية أكاديميةUltra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
المؤلفون: Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Singh, T, Heyne, H, Byrnes, A, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Heinzen, EL, Dhindsa, RS, Stanley, KE, Cavalleri, GL, Hakonarson, H, Helbig, I, Krause, R, May, P, Weckhuysen, S, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Kwan, P, Marson, AG, Stewart, R, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, McKenna, K, Regan, BM, Bellows, ST, Leu, C, Bennett, CA, Johns, EMC, Macdonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Mueller-Schlueter, K, Kluger, G, Hausler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Hengsbach, C, Rau, S, Maisch, AF, Steinhoff, BJ, Schulze-Bonhage, A, Schubert-Bast, S, Schreiber, H, Borggrafe, I, Schankin, CJ, Mayer, T, Korinthenberg, R, Brockmann, K, Dennig, D, Madeleyn, R, Kalviainen, R, Auvinen, P, Saarela, A, Linnankivi, T, Lehesjoki, A-E, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Barisic, N, Delanty, N, Doherty, CP, Shukralla, A, McCormack, M, El-Naggar, H, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Zara, F, Iacomino, M, Madia, F, Vari, MS, Mancardi, MM, Salpietro, V, Bisulli, F, Tinuper, P, Licchetta, L, Pippucci, T, Stipa, C, Minardi, R, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Marini, C, Suzuki, T, Inoue, Y, Yamakawa, K, Tumiene, B, Sadleir, LG, King, C, Mountier, E, Caglayan, SH, Arslan, M, Yapici, Z, Yis, U, Topaloglu, P, Kara, B, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Ugur-Iseri, S, Baykan, B, Salman, B, Haryanyan, G, Yucesan, E, Kesim, Y, Ozkara, C, Poduri, A, Shiedley, BR, Shain, C, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Khankhanian, P, Helbig, KL, Ellis, CA, Spalletta, G, Piras, F, Gili, T, Ciullo, V, Reif, A, McQuillin, A, Bass, N, McIntosh, A, Blackwood, D, Johnstone, M, Palotie, A, Pato, MT, Pato, CN, Bromet, EJ, Carvalho, CB, Achtyes, ED, Azevedo, MH, Kotov, R, Lehrer, DS, Malaspina, D, Marder, SR, Medeiros, H, Morley, CP, Perkins, DO, Sobell, JL, Buckley, PF, Macciardi, F, Rapaport, MH, Knowles, JA, Fanous, AH, McCarroll, SA, Gupta, N, Gabriel, SB, Daly, MJ, Lander, ES, Lowenstein, DH, Goldstein, DB, Lerche, H, Berkovic, SF, Neale, BM
المصدر: American Journal of Human Genetics , 105 (2) pp. 267-282. (2019)
مصطلحات موضوعية: epilepsy, seizures, epileptic encephalopathy, exome, sequencing, burden analysis
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10081126/1/Sisodiya_AAM_FINAL_PROOF_EPI25_WES_ms_text.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10081126Test/
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9دورية أكاديميةUltra-rare genetic variation in the epilepsies: A whole-exome sequencing study of 17,606 individuals
المؤلفون: Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Singh, T, Heyne, H, Byrnes, A, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Heinzen, EL, Dhindsa, RS, Stanley, KE, Cavalleri, GL, Hakonarson, H, Helbig, I, Krause, R, May, P, Weckhuysen, S, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Kwan, P, Marson, AG, Stewart, R, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, McKenna, K, Regan, BM, Bellows, ST, Leu, C, Bennett, CA, Johns, EMC, Macdonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O’Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Štěrbová, K, Vlčková, M, Sedláčková, L, Laššuthová, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, Van Baalen, A, Von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Müller-Schlüter, K, Kluger, G, Häusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Hengsbach, C, Rau, S, Maisch, AF, Steinhoff, BJ, Schulze-Bonhage, A, Schubert-Bast, S, Schreiber, H, Borggräfe, I, Schankin, CJ, Mayer, T, Korinthenberg, R, Brockmann, K, Dennig, D, Madeleyn, R, Kälviäinen, R, Auvinen, P, Saarela, A, Linnankivi, T, Lehesjoki, A-E, Rees, MI, Chung, S-K, Pickrell, WO, Powell, R, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Barišić, N, Delanty, N, Doherty, CP, Shukralla, A, McCormack, M, El-Naggar, H, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Zara, F, Iacomino, M, Madia, F, Vari, MS, Mancardi, MM, Salpietro, V, Bisulli, F, Tinuper, P, Licchetta, L, Pippucci, T, Stipa, C, Minardi, R, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Marini, C, Suzuki, T, Inoue, Y, Yamakawa, K, Tumiene, B, Sadleir, LG, King, C, Mountier, E, Caglayan, SH, Arslan, M, Yapıcı, Z, Yis, U, Topaloglu, P, Kara, B, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Uğur-İşeri, S, Baykan, B, Salman, B, Haryanyan, G, Yücesan, E, Kesim, Y, Özkara, Ç, Poduri, A, Shiedley, BR, Shain, C, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, RI, Devinsky, O, Hegde, M, Khankhanian, P, Helbig, KL, Ellis, CA, Spalletta, G, Piras, F, Gili, T, Ciullo, V, Reif, A, McQuillin, A, Bass, N, McIntosh, A, Blackwood, D, Johnstone, M, Palotie, A, Pato, MT, Pato, CN, Bromet, EJ, Carvalho, CB, Achtyes, ED, Azevedo, MH, Kotov, R, Lehrer, DS, Malaspina, D, Marder, SR, Medeiros, H, Morley, CP, Perkins, DO, Sobell, JL, Buckley, PF, Macciardi, F, Rapaport, MH, Knowles, JA, Fanous, AH, McCarroll, SA, Gupta, N, Gabriel, SB, Daly, MJ, Lander, ES, Lowenstein, DH, Goldstein, DB, Lerche, H, Berkovic, SF, Neale, BM
المساهمون: Wellcome Trust, Department of Health, Institute of Neurology, UCL, Imperial College Healthcare NHS Trust- BRC Funding, Commission of the European Communities, Medical Research Council (MRC)
المصدر: 282 ; 267
مصطلحات موضوعية: Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences
العلاقة: The American Journal of Human Genetics; http://hdl.handle.net/10044/1/72575Test; https://doi.org/10.1016/j.ajhg.2019.05.020Test; 066056/Z/01/Z; PHGX16A; N/A; RDA03; RD610; 279062; P35076
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10دورية أكاديمية
المؤلفون: Matsushita, T, Madireddy, L, Sprenger, T, Khankhanian, P, Magon, S, Naegelin, Y, Caverzasi, E, Lindberg, RLP, Kappos, L, Hauser, SL, Oksenberg, JR, Henry, R, Pelletier, D, Baranzini, SE
المصدر: Genes Brain & Behavior, vol 14, iss 2
مصطلحات موضوعية: Biological Sciences, Genetics, Neurodegenerative, Prevention, Biomedical Imaging, Autoimmune Disease, Human Genome, Multiple Sclerosis, Neurosciences, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Quality Education, Adult, Aged, Brain, Calcium, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Nerve Net, cortical thickness, data integration, GWAS, MRI
جغرافية الموضوع: 217 - 227
وصف الملف: application/pdf
العلاقة: qt4jb516sm; https://escholarship.org/uc/item/4jb516smTest